Detalhe da pesquisa
1.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
J Med Genet
; 56(7): 453-460, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890586
2.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Int J Cancer
; 145(2): 401-414, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30623411
3.
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Hum Mutat
; 39(9): 1155-1160, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969168
4.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum Mutat
; 39(5): 729-741, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460995
5.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870
6.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060066
7.
Application of bacteriophages in sensor development.
Anal Bioanal Chem
; 408(7): 1805-28, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26472318
8.
BRCA1 Alternative splicing landscape in breast tissue samples.
BMC Cancer
; 15: 219, 2015 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25884417
9.
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Front Genet
; 9: 366, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30233647